The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine

被引：12

作者：

Papadopoulou, Eirini ^{[1
]}

Pepe, Georgia ^{[1
]}

Konitsiotis, Spiridon ^{[2
]}

Chondrogiorgi, Maria ^{[2
]}

Grigoriadis, Nikolaos ^{[3
]}

Kimiskidis, Vasilios K. ^{[4
]}

Tsivgoulis, Georgios ^{[5
]}

Mitsikostas, Dimos D. ^{[6
]}

Chroni, Elisabeth ^{[7
]}

Domouzoglou, Eleni ^{[8
]}

Tsaousis, Georgios ^{[1
]}

Nasioulas, Georgios ^{[1
]}

机构：

[1] GeneKor Med SA, Spaton 52, Gerakas 15344, Greece

[2] Univ Ioannina, Dept Neurol, Stavrou Niarchou Ave, Ioannina 45500, Greece

[3] Aristotle Univ Thessaloniki, AHEPA Univ Hosp, Dept Neurol 2, St Kiriakidis 1, Thessaloniki 54636, Greece

[4] Aristotle Univ Thessaloniki, AHEPA Univ Hosp, Dept Neurol 1, St Kiriakidis 1, Thessaloniki 54636, Greece

[5] Natl & Kapodistrian Univ Athens, Attikon Univ Hosp, Sch Med, Dept Neurol 2, Athens, Greece

[6] Natl & Kapodistrian Univ Athens, Aeginit Hosp, Dept Neurol 1, Athens, Greece

[7] Univ Patras, Sch Med, Dept Neurol, Rion, Greece

[8] Univ Hosp Ioannina, Dept Pediat, Stavrou Niarchou Ave, Ioannina 45500, Greece

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 2023年 / 447卷

关键词：

Next generation sequencing; Personalized treatment; Genetic analysis; Chromosomal microarrays; Neurogenetics; PERSONALIZED MEDICINE; CHROMOSOMAL MICROARRAY; MOLECULAR DIAGNOSIS; CONSENSUS STATEMENT; PRACTICE GUIDELINES; AMERICAN-COLLEGE; EFNS GUIDELINES; DISEASE; MANAGEMENT; ATROPHY;

D O I：

10.1016/j.jns.2023.120609

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Technological advancements have facilitated the availability of reliable and thorough genetic analysis in many medical fields, including neurology. In this review, we focus on the importance of selecting the appropriate genetic test to aid in the accurate identification of disease utilizing currently employed technologies for analyzing monogenic neurological disorders. Moreover, the applicability of comprehensive analysis via NGS for various genetically heterogeneous neurological disorders is reviewed, revealing its efficiency in clarifying a frequently cloudy diagnostic picture and delivering a conclusive and solid diagnosis that is essential for the proper management of the patient. The feasibility and effectiveness of medical genetics in neurology require interdisciplinary cooperation among several medical specialties and geneticists, to select and perform the most relevant test according to each patient's medical history, using the most appropriate technological tools. The prerequisites for a comprehensive genetic analysis are discussed, highlighting the utility of appropriate gene selection, variant annotation, and classification. Moreover, genetic counseling and interdisciplinary collaboration could improve diagnostic yield further. Additionally, a sub-analysis is conducted on the 1,502,769 variation records with submitted interpretations in the Clinical Variation (ClinVar) database, with a focus on neurology-related genes, to clarify the value of suitable variant categorization. Finally, we review the current applications of genetic analysis in the diagnosis and personalized management of neurological patients and the advances in the research and scientific knowledge of hereditary neurological disorders that are evolving the utility of genetic analysis towards the individualization of the treatment strategy.

引用

页数：16

共 144 条

[11]

Breevoort S., 2022, NEUROL-GENET, V8, P670

[12] Beneficial Prenatal Levodopa Therapy in Autosomal Recessive Guanosine Triphosphate Cyclohydrolase 1 Deficiency [J].

Brueggemann, Norbert ;

Spiegler, Juliane ;

Hellenbroich, Yorck ;

Opladen, Thomas ;

Schneider, Susanne A. ;

Stephani, Ulrich ;

Boor, Rainer ;

Gillessen-Kaesbach, Gabriele ;

Sperner, Juergen ;

Klein, Christine .

ARCHIVES OF NEUROLOGY, 2012, 69 (08) :1071-1075

[13]

Budworth Helen, 2013, Methods Mol Biol, V1010, P3, DOI 10.1007/978-1-62703-411-1_1

[14] EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders [J].

Burgunder, J. -M. ;

Schoels, L. ;

Baets, J. ;

Andersen, P. ;

Gasser, T. ;

Szolnoki, Z. ;

Fontaine, B. ;

Van Broeckhoven, C. ;

Di Donato, S. ;

De Jonghe, P. ;

Lynch, T. ;

Mariotti, C. ;

Spinazzola, A. ;

Tabrizi, S. J. ;

Tallaksen, C. ;

Zeviani, M. ;

Harbo, H. F. ;

Finsterer, J. .

EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 (02) :207-E20

[15] High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy [J].

Cavdarli, Busranur ;

Koken, Ozlem Yayici ;

Satilmis, Saide Betul Arslan ;

Bilen, Sule ;

Ardicli, Didem ;

Ceylan, Ahmet Cevdet ;

Gunduz, Cavidan Nur Semerci ;

Topaloglu, Haluk .

ANNALS OF HUMAN GENETICS, 2023, 87 (03) :104-114

[16] Somatic Genomic Testing in Patients With Metastatic or Advanced Cancer: ASCO Provisional Clinical Opinion [J].

Chakravarty, Debyani ;

Johnson, Amber ;

Sklar, Jeffrey ;

Lindeman, Neal, I ;

Moore, Kathleen ;

Ganesan, Shridar ;

Lovly, Christine M. ;

Perlmutter, Jane ;

Gray, Stacy W. ;

Hwang, Jimmy ;

Lieu, Christopher ;

Andre, Fabrice ;

Azad, Nilofer ;

Borad, Mitesh ;

Tafe, Laura ;

Messersmith, Hans ;

Robson, Mark ;

Meric-Bernstam, Funda .

JOURNAL OF CLINICAL ONCOLOGY, 2022, 40 (11) :1231-+

[17] The Role of Genetic Data in Selecting Device-Aided Therapies in Patients With Advanced Parkinson's Disease: A Mini-Review [J].

Chan, Germaine Hiu-Fai .

FRONTIERS IN AGING NEUROSCIENCE, 2022, 14

[18] Personalized Medicine: Progress and Promise [J].

Chan, Isaac S. ;

Ginsburg, Geoffrey S. .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 12, 2011, 12 :217-244

[19]

Cochran J.N., 2019, CSH MOL CASE STUD, V5

[20] Editorial: Overlapping Phenotypes and Genetic Heterogeneity of Rare Neurodevelopmental Disorders [J].

Cogliati, Francesca ;

Forzano, Francesca ;

Russo, Silvia .

FRONTIERS IN NEUROLOGY, 2021, 12

← 1 2 3 4 5 6 7 8 9 10 →